Variant "MYB:c.1991C>T(p.Ser664Leu)"
Search result: 1 record
Variant information
Gene:
MYB 
Variant:
MYB:c.1991C>T(p.Ser664Leu) 
Genomic location:
chr6:135522817(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001130173.1:c.1991C>T(p.Ser664Leu)
protein_coding NM_001161656.1:c.1982C>T(p.Ser661Leu)
protein_coding NM_001161658.1:c.1943C>T(p.Ser648Leu)
protein_coding NM_005375.3:c.1628C>T(p.Ser543Leu)
protein_coding NM_001130172.1:c.1619C>T(p.Ser540Leu)
protein_coding NM_001161660.1:c.1523C>T(p.Ser508Leu)
protein_coding NM_001161657.1:c.1373C>T(p.Ser458Leu)
protein_coding NM_001161659.1:c.1587+1264C>T
pseudogene NR_134958.1:n.1949C>T
pseudogene NR_134959.1:n.1940C>T
pseudogene NR_134960.1:n.1883C>T
pseudogene NR_134961.1:n.2010C>T
pseudogene NR_134962.1:n.1728C>T
pseudogene NR_134963.1:n.1969C>T
pseudogene NR_134964.1:n.1874C>T
pseudogene NR_134965.1:n.2005C>T
show all
dbSNP ID:
rs112653372  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered fetal hemoglobin (HbF) levels(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered fetal hemoglobin (HbF) levels 
    Evidence:
    P=0.005 
    Effect:
    Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.
    Reference:
    PMID21057501
    Title:
    Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
    Species studied:
    Human
    Abstract:
    We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.